Progressive myoclonic epilepsy with dystonia
Synonyms: PMED | Progressive myoclonus epilepsy with dystonia
Progressive myoclonic epilepsy with dystonia is a rare genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe progressive typically frequent and prolonged myoclonic seizures that are refractory to treatment associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia hemiplegia psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy with affected individuals becoming progressively non-reactive to environmental stimuli.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Progressive myoclonic epilepsy with dystonia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.